HsaEX0020220 @ hg38
Exon Skipping
Gene
ENSG00000124721 | DNAH8
Description
dynein axonemal heavy chain 8 [Source:HGNC Symbol;Acc:HGNC:2952]
Coordinates
chr6:38866591-38868196:+
Coord C1 exon
chr6:38866591-38866677
Coord A exon
chr6:38866769-38866876
Coord C2 exon
chr6:38868062-38868196
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTCACTATATTAATTTTCAGATC
3' ss Score
8.89
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
AACCCTGGATATGCTGGGCGCCAGGAACTACCAGAAAACCTAAAAATCCAGTTTAGAACTGTTGCTATGATGGTTCCTGATAGACAG
Seq A exon
ATCATTATGAGAGTTAAACTTGCAAGCTGTGGTTTTCTTGAAAATGTTATCTTGGCTCAAAAATTTTACGTTCTTTACAAACTCTGTGAAGAGCAACTTACTAAACAG
Seq C2 exon
GTTCATTATGACTTTGGATTGAGAAATATTCTGTCTGTATTGAGGACTCTTGGATCTCAAAAAAGAGCCAGACCAGAAGATAGTGAATTAAGCATTGTCATGAGAGGACTAAGAGATATGAACCTTTCCAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124721_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127742=AAA_6=FE(12.1=100)
A:
PF127742=AAA_6=FE(15.1=100)
C2:
PF127742=AAA_6=PD(10.3=53.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACCCTGGATATGCTGGGCG
R:
TTGGAAAGGTTCATATCTCTTAGTCC
Band lengths:
218-326
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Autistic and control brains
- Pre-implantation embryo development